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Neurology, ISSN 0028-3878, 05/2018, Volume 90, Issue 20, pp. e1827 - e1831
Journal Article
2011, 2nd ed., Contemporary neurology series, ISBN 019959001X, Volume 78, xxx, 444
Book
Neurobiology of Aging, ISSN 0197-4580, 2016, Volume 46, pp. 236.e1 - 236.e6
Abstract We have previously reported the whole genome genotyping analysis of two consanguineous siblings clinically diagnosed with early onset Alzheimer’s... 
Neurology | Internal Medicine | Early onset Alzheimer’s disease | CTSF | Kufs disease | Recessive | Homozygosity | Exome sequencing
Journal Article
Pratique Neurologique - FMC, ISSN 1878-7762, 03/2015, Volume 6, Issue 2, pp. 164 - 173
Journal Article
Neurology, ISSN 0028-3878, 07/2012, Volume 79, Issue 2, pp. 183 - 191
Journal Article
Journal Article
BBA - Molecular Basis of Disease, ISSN 0925-4439, 11/2013, Volume 1832, Issue 11, pp. 1801 - 1806
Journal Article
The American Journal of Human Genetics, ISSN 0002-9297, 08/2011, Volume 89, Issue 2, pp. 241 - 252
Journal Article
2001, Advances in genetics, ISBN 9780120176458, Volume 45, xiii, 243
This title will present all current knowledge of Batten disease from research to clinical evaluation. NCL is not well recognized in underdeveloped countries... 
Neuronal ceroid-lipofuscinosis | Genetic aspects | Metabolism | Disorders | Molecular cloning
Book
Neurology, ISSN 0028-3878, 02/2014, Volume 82, Issue 5, pp. 405 - 411
Journal Article
Journal Article
Journal Article
CURRENT MOLECULAR MEDICINE, ISSN 1566-5240, 2014, Volume 14, Issue 8, pp. 1043 - 1051
Neuronal Ceroid Lipofuscinoses (NCL) are genetically heterogeneous heritable neurodegenerative disorders with worldwide distribution. They are considered as... 
NCL pathogenesis | STORAGE | MEDICINE, RESEARCH & EXPERIMENTAL | CELLS | NCL epidemiology | ACTIVATION | NCL treatments | KUFS-DISEASE | PATHOLOGY | NCL genes | NCL pathology | MURINE MODEL | NCL | MOUSE MODEL | MUTATION | BATTEN-DISEASE | NCL phenotypes
Journal Article